C57BL/6JCya-Makem1/Cya
Common Name
Mak-KO
Product ID
S-KO-16788
Backgroud
C57BL/6JCya
Strain ID
KOCMP-17152-Mak-B6J-VB
Status
When using this mouse strain in a publication, please cite “Mak-KO Mouse (Catalog S-KO-16788) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Mak-KO
Strain ID
KOCMP-17152-Mak-B6J-VB
Gene Name
Product ID
S-KO-16788
Gene Alias
A930010O05Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
Chr 13
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000165087
NCBI RefSeq
NM_001145803
Target Region
Exon 3
Size of Effective Region
~0.1 kb
Overview of Gene Research
Mak, a ciliopathy kinase, is a ciliary tip-localized intraflagellar transport (IFT) regulator. IFT is crucial for the formation, function, and maintenance of primary cilia, whose dysfunction leads to ciliopathies in humans. Mak cooperates with another IFT regulator, the ciliopathy kinase Ick, and together they are essential for the maintenance of retinal photoreceptors [1].
Simultaneous disruption of Mak and Ick in mice resulted in the loss of photoreceptor ciliary axonemes and severe retinal degeneration. In Mak -/- mice, gene delivery of Ick and pharmacological inhibition of FGF receptors (Ick negative regulators) ameliorated retinal degeneration. Additionally, Ccrk kinase was identified as an upstream activator of Mak and Ick in retinal photoreceptor cells. Overexpression of Mak, Ick, and Ccrk along with pharmacological inhibition of FGF receptors suppressed ciliopathy-related phenotypes caused by cytoplasmic dynein inhibition in cultured cells [1].
In conclusion, Mak, through its cooperation with Ick and regulation by Ccrk, is essential for maintaining the integrity of retinal photoreceptors. The study of Mak knockout mouse models has revealed its critical role in preventing retinal degeneration, offering potential therapeutic approaches for retinitis pigmentosa caused by MAK mutations [1].
References:
1. Chaya, Taro, Maeda, Yamato, Tsutsumi, Ryotaro, Tanaka, Teruyuki, Furukawa, Takahisa. 2024. Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival. In Life science alliance, 7, . doi:10.26508/lsa.202402880. https://pubmed.ncbi.nlm.nih.gov/39293864/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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